NUT carcinoma – An aggressive thoracic tumor

Ribeiro, João Ubaldo; Sousa, Jéssica Silva; Jesus, Filipa; Almeida, Élin; Costa, J.; Reis, Madalena; Gomes, Rita Matos

doi:10.1016/j.amjms.2023.03.028

Cited by 1 publication

(1 citation statement)

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“…However, patients with NUT carcinoma usually do not have a significant history of smoking, and there is no evidence that patients are often accompanied by emphysema. Immunohistochemical detection of NUT protein has a high sensitivity and specificity for the diagnosis of this disease, so relatively extensive immunohistochemical testing is still needed to aid in its differential diagnosis from SMARCA4-UT ( 34 , 35 ).…”

Section: Discussionmentioning

confidence: 99%

Imaging performance of thoracic SMARCA4-deficient undifferentiated tumor: a case report and literature review

Yang,

Wang

2024

Transl Lung Cancer Res

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Background SMARCA4-deficient undifferentiated tumor (SMARCA4-UT) is a class of high-grade malignant tumors that has only been described in recent years, with an undifferentiated or rhabdoid morphology and genetic deletion of SMARCA4 ( BRG1 ), a subunit of the BRG1 -associated factors (BAFs) chromatin remodeling complex. It is a rare tumor type that occurs in young to middle-aged men and usually presents as a compressive thoracic mass with rapid progression and poor prognosis. However, much remains unknown about the clinical and imaging manifestations of the disease. Case Description Herein, we report a 51-year-old man who came to our hospital with multiple enlarged lymph nodes in the chest after a computed tomography (CT) examination at another hospital. The patient underwent conventional ultrasound (US), contrast-enhanced ultrasound (CEUS), magnetic resonance imaging (MRI), 18 F-fluorodeoxyglucose positron emission tomography/CT (PET/CT), and finally confirmed the diagnosis of SMARCA4-UT by US-guided puncture biopsy. After symptomatic management, the patient was transferred to another hospital and we performed a short-term follow-up. Conclusions During this procedure, we obtained a series of relevant clinical and imaging data, especially US and CEUS images, which were described for the first time, offering valuable imaging information that will contribute to the clinical diagnosis of this disease to a certain extent. Moreover, this case highlights the efficacy of CEUS in identifying internal necrosis within tumors and lymph nodes, thereby improving the success rate of obtaining tumor tissue for pathological diagnosis. These findings substantiate the practical utility of US and CEUS in the context of mediastinal SMARCA4-UT, emphasizing their potential for widespread clinical adoption.

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Section: Discussionmentioning

confidence: 99%